Edema, and Abnormal bleeding

Diseases related with Edema and Abnormal bleeding

In the following list you will find some of the most common rare diseases related to Edema and Abnormal bleeding that can help you solving undiagnosed cases.

Top matches:

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.

CONGENITAL FACTOR XII DEFICIENCY Is also known as hageman factor deficiency|f12 deficiency|congenital hageman factor deficiency|haf deficiency

Related symptoms:

  • Pain
  • Edema
  • Headache
  • Abdominal pain
  • Abnormal bleeding


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CONGENITAL FACTOR XII DEFICIENCY

DFNA1 is an autosomal dominant form of progressive hearing loss with onset in the first decade. Some patients may have mild thrombocytopenia and enlarged platelets, although most of these individuals do not have significant bleeding tendencies (summary by Neuhaus et al., 2017).

DIAPH1-RELATED SENSORINEURAL HEARING LOSS-THROMBOCYTOPENIA SYNDROME Is also known as konigsmark syndrome|deafness, autosomal dominant 1, with or without thrombocytopenia|diaph1-related sensorineural deafness-thrombocytopenia syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Edema
  • Thrombocytopenia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DIAPH1-RELATED SENSORINEURAL HEARING LOSS-THROMBOCYTOPENIA SYNDROME

Other less relevant matches:

Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984).Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3 Is also known as proc deficiency, autosomal dominant|protein c deficiency, autosomal dominant

Related symptoms:

  • Seizures
  • Pain
  • Abnormality of the nervous system
  • Abnormality of the eye
  • Stroke


SOURCES: OMIM MENDELIAN

More info about THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3

Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.

Related symptoms:

  • Abnormal bleeding
  • Epistaxis
  • Spontaneous abortion
  • Cerebral hemorrhage
  • Joint swelling


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL AFIBRINOGENEMIA

Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.

FIBRONECTIN GLOMERULOPATHY Is also known as fibronectin glomerulopathy|glomerulopathy with fibronectin deposits|glomerular nephritis, familial, with fibronectin deposits|gfnd

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Proteinuria
  • Stage 5 chronic kidney disease
  • Nephropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRONECTIN GLOMERULOPATHY

Progressive familial intrahepatic cholestasis-5 (PFIC5) is an autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy (summary by Gomez-Ospina et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (OMIM ).

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5 Is also known as nr1h4 deficiency|pfic5

Related symptoms:

  • Failure to thrive
  • Edema
  • Jaundice
  • Hypoglycemia
  • Elevated hepatic transaminase


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5

Autosomal dominant neovascular inflammatory vitreoretinopathy is a rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.

AUTOSOMAL DOMINANT NEOVASCULAR INFLAMMATORY VITREORETINOPATHY Is also known as adniv|pvr|vitreoretinopathy, neovascular inflammatory, autosomal dominant|proliferative vitreoretinopathy

Related symptoms:

  • Cataract
  • Edema
  • Blindness
  • Visual loss
  • Rod-cone dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT NEOVASCULAR INFLAMMATORY VITREORETINOPATHY

Low match HELLP SYNDROME

Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011).Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) (Brown et al., 2000). Genetic Heterogeneity of Preeclampsia/EclampsiaSusceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 (OMIM ) on chromosome 2p25, and PEE3 (OMIM ) on chromosome 9p13. PEE4 (OMIM ) is caused by mutation in the STOX1 gene (OMIM ) on chromosome 10q22. PEE5 (OMIM ) is caused by mutation in the CORIN gene (OMIM ) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene (OMIM ) on chromosome 1q.

HELLP SYNDROME Is also known as hemolysis-elevated liver enzymes-low platelets syndrome|toxemia of pregnancy|hemolysis, elevated liver enzymes, low platelets in pregnancy|preg1|pee

Related symptoms:

  • Seizures
  • Hypertension
  • Intrauterine growth retardation
  • Edema
  • Renal insufficiency


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HELLP SYNDROME

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.

BODY SKIN HYPERLAXITY DUE TO VITAMIN K-DEPENDENT COAGULATION FACTOR DEFICIENCY Is also known as pseudoxanthoma elasticum-like syndrome|pxe-like syndrome|pxe-like disorder with multiple coagulation factor deficiency

Related symptoms:

  • Dilatation
  • Papule
  • Abnormal bleeding
  • Epistaxis
  • Atherosclerosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BODY SKIN HYPERLAXITY DUE TO VITAMIN K-DEPENDENT COAGULATION FACTOR DEFICIENCY

Top 5 symptoms//phenotypes associated to Edema and Abnormal bleeding

Symptoms // Phenotype % cases
Cerebral hemorrhage Uncommon - Between 30% and 50% cases
Seizures Rare - less than 30% cases
Renal insufficiency Rare - less than 30% cases
Abnormality of the eye Rare - less than 30% cases
Thrombocytopenia Rare - less than 30% cases

Other less frequent symptoms

Patients with Edema and Abnormal bleeding. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Hypertension Gingival bleeding Pain Thrombophlebitis Arterial thrombosis Epistaxis Deep venous thrombosis Thromboembolism Venous thrombosis Myocardial infarction Elevated hepatic transaminase Proteinuria Retinal detachment Abnormal electroretinogram Abnormality of retinal pigmentation Pigmentary retinopathy Uveitis Blindness Retinal degeneration Retinopathy Glaucoma Rod-cone dystrophy Visual loss Macular edema Cataract Intraventricular hemorrhage Micronodular cirrhosis Prolonged prothrombin time Conjugated hyperbilirubinemia Intrahepatic cholestasis Abnormality of the coagulation cascade Hyperammonemia Vitreoretinopathy Leakage of dye on fundus fluorescein angiography Inflammatory abnormality of the eye Papule Reduced prothrombin activity Reduced factor X activity Reduced factor VII activity Reduced factor IX activity Angioid streaks of the fundus Intermittent claudication Hematemesis Dilatation of the cerebral artery Abnormality of coagulation Redundant skin Cutis laxa Atherosclerosis Dilatation Vitreous hemorrhage Maternal hypertension Eclampsia Preeclampsia Autoimmunity Intrauterine growth retardation Posterior retinal neovascularization Large hyperpigmented retinal spots Peripheral retinal neovascularization Iris neovascularization Cholestasis Tractional retinal detachment Epiretinal membrane Cystoid macular edema Hyperbilirubinemia Generalized distal tubular acidosis Ascites Menorrhagia Pulmonary infiltrates Pulmonary embolism Purpura Stroke Abnormality of the nervous system Low-frequency hearing loss Macrothrombocytopenia Otosclerosis Severe sensorineural hearing impairment Iron deficiency anemia Progressive hearing impairment Angioedema Neutropenia Anemia Sensorineural hearing impairment Hearing impairment Prolonged whole-blood clotting time Retinal vein occlusion Reduced factor XII activity Prolonged partial thromboplastin time Allergy Abdominal pain Headache Hypercoagulability Disseminated intravascular coagulation Hepatic failure Hypoalbuminemia Cirrhosis Abnormality of the liver Hypoglycemia Jaundice Failure to thrive Mesangial abnormality Edema of the lower limbs Microscopic hematuria Renal cell carcinoma Glomerulopathy Glomerulonephritis Nephrotic syndrome Cerebral venous thrombosis Hematuria Nephropathy Stage 5 chronic kidney disease Menometrorrhagia Joint swelling Spontaneous abortion Warfarin-induced skin necrosis Recurrent thrombophlebitis Superficial thrombophlebitis Reduced protein C activity Recurrent deep vein thrombosis Peau d'orange


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